These authors contributed equally to this project and should be considered co-first authors.
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case
Article first published online: 26 JAN 2011
© 2011 The Authors. Psychiatry and Clinical Neurosciences © 2011 Japanese Society of Psychiatry and Neurology
Psychiatry and Clinical Neurosciences
Volume 65, Issue 1, pages 105–108, February 2011
How to Cite
Hayashi, T., Nakamura, M., Ichiba, M., Matsuda, M., Kato, M., Shiokawa, N., Shimo, H., Tomiyasu, A., Mori, S., Tomiyasu, Y., Ishizuka, T., Inamori, Y., Okamoto, Y., Umehara, F., Arimura, K., Nakabeppu, Y. and Sano, A. (2011), Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case. Psychiatry and Clinical Neurosciences, 65: 105–108. doi: 10.1111/j.1440-1819.2010.02169.x
- Issue published online: 26 JAN 2011
- Article first published online: 26 JAN 2011
- Received 26 February 2010; revised 8 November 2010; accepted 13 November 2010.
- compound heterozygous mutation;
- disinhibitory behavior;
- frontal lobe dysfunction;
- genotype–phenotype correlation;
- metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old female patient who developed manifestations of disinhibitory behavior. She was diagnosed with MLD by genetic analysis, which revealed compound heterozygous ARSA missense mutations (p.G99D and p.T409I). The same combination of mutations was previously reported in a Japanese patient with similar symptoms. We performed additional, detailed neuropsychological tests with functional imaging on the current patient that demonstrated frontal lobe dysfunction. These results indicate that the mutations have important implications for genotype–phenotype correlation in MLD.